A rare duplication of the PTPRT gene was found in an individual with ASD (Christian et al., 2008).
Molecular Function
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. The protein domain structure and the expression pattern of the mouse counterpart of this PTP suggest its roles in both signal transduction and cellular adhesion in the central nervous system. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
